Case 1: Skin Discoloration in a Preterm Infant with Flank Mass, Hematuria, and Thrombocytopenia.

A male infant is born at 36 2/7 weeks’ estimated gestational age to a 30-year-old, gravida 1, para 1 woman who is blood group O positive with negative prenatal serologies. Maternal history is significant for a body mass index greater than 30 kg/m2 and elevated 1-hour glucose tolerance screening result but a normal result on 3-hour glucose tolerance screening. Serum analyte screening demonstrates an elevated trisomy 21 risk (1:70) with normal cell-free DNA (46X,Y) and anatomy scan at 20 weeks’ gestation. The woman presents with decreased fetal movement and receives a single dose of betamethasone 4 hours before delivery. The delivery is via primary cesarean section for nonreassuring fetal heart rate tracing with difficult extraction requiring vacuum assistance.\n\nIn the delivery room, Apgar scores are 7 at 1 minute and 8 at 5 minutes. Growth parameters are appropriate for gestational age. The infant develops respiratory distress requiring continuous positive airway pressure (CPAP) and is admitted to the NICU for further care. A blood specimen is obtained for culture and ampicillin and gentamicin therapy are initiated because of hypoglycemia and respiratory distress.\n\nAt 4 hours after birth, he develops gross hematuria with passage of small, bright-red blood clots. A firm, discrete left flank mass is noted on physical examination. In addition, the examination reveals a grade I/VI systolic murmur with normal pulses and perfusion. Phototherapy is initiated 10 hours after birth for pathologic jaundice, with a total serum bilirubin level of 8.8 mg/dL (150.5 μmol/L) and conjugated bilirubin of less than 0.2 mg/dL (\u003c3.5 μmol/L). The infant is weaned …